G1133A (p.Gly1133Ala) variant of ABCC6 (O95255)
G1133A (p.Gly1133Ala) in ABCC6 (O95255) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of not provided; Autosomal recessive inherited pseudoxanthoma elasticum. The available variant effect predictions contribute to a CATVariant prioritization score of 0.78 / 1. The record also includes published literature and structural context.
G1133A (p.Gly1133Ala) variant details
- p.Gly1133Ala
- rs63750473
- ClinGen CA10588595
- ClinVar RCV000255412
- ClinVar RCV000499057
- Likely pathogenic
- not provided; Autosomal recessive inherited pseudoxanthoma elasticum
- Missense
- Variant Prioritization Score for Impact Estimate 0.776
- AlphaMissense 0.41
- MetaLR 0.89
- MetaSVM 0.98
- PolyPhen-2 1.00
- SIFT 0.00
- EVE 0.70
- ClinVar: Likely pathogenic (not provided; Autosomal recessive inherited pseudoxanthoma elast)
- EBI: Pathogenic (in PXE)
- UniProt: Pathogenic (in PXE)
- Structural context available
- Cited in: Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by… (PMID 17617515)
- Cited in: Pseudoxanthoma Elasticum. (PMID 20301292)